Ozdemir Fethi Ahmet, Erol Deniz, Konar Vahit, Yüce Hüseyin, Kara Şenli Ebru, Bulut Funda, Deveci Figen
Department of Molecular Biology and Genetics, Faculty of Science, Bartin University, Bartin, Turkey.
Tuberk Toraks. 2014;62(1):7-11. doi: 10.5578/tt.4740.
Tuberculosis, is one of the a leading causes of death worldwide, is characterized by different clinical forms including: latent, localized pulmonary infection and extrapulmonary tuberculosis. Candidate gene association studies have implicated common polymophisms in genes that may influence the development of tuberculosis. This study, aimed to elucidate the role of P2X7 gene in 1513A/C polymorphism the etiopathogenesis of tuberculosis.
The study included 160 patients with tuberculosis (71 pulmonary and 89 extrapulmonary tuberculosis) and 160 healthy controls. Genomic DNA was isolated and 1513A/C polymorphism in P2X(7) gene was genotyped by PCR-RFLP method.
Frequency of P2X7 AA genotype was 47.5% in controls and 56.87% in patients, AC frequency was 39.37% controls and 32.5% in patients, CC genotype was 13.12% in controls and 10.62% in patients. No significant difference in allele and genotype frequencies (1513A/C polymorphism) between tuberculosis patients and controls was found.
The results suggest that 1513A/C polymorphism of P2X7 gene is not associated with pulmonary and extrapulmonary tuberculosis in the Eastern Turkey.
结核病是全球主要死因之一，其临床形式多样，包括潜伏性、局限性肺部感染和肺外结核。候选基因关联研究表明，某些基因中的常见多态性可能影响结核病的发生发展。本研究旨在阐明P2X7基因1513A/C多态性在结核病发病机制中的作用。
本研究纳入160例结核病患者（71例肺结核和89例肺外结核）及160例健康对照。提取基因组DNA，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对P2X(7)基因1513A/C多态性进行基因分型。
对照组中P2X7 AA基因型频率为47.5%，患者组为56.87%；AC基因型频率对照组为39.37%，患者组为32.5%；CC基因型频率对照组为13.12%，患者组为10.62%。结核病患者与对照组之间的等位基因和基因型频率（1513A/C多态性）无显著差异。
结果表明，在土耳其东部，P2X7基因的1513A/C多态性与肺结核和肺外结核无关。
